Canonical Allele Identifier: CA469545236
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs1841179060
MyVariant Identifiers: chr10:g.55566366G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806606G>A , CM000672.2:g.53806606G>A GRCh38
NC_000010.10:g.55566366G>A , CM000672.1:g.55566366G>A GRCh37
NC_000010.9:g.55236372G>A NCBI36
NG_009191.2:g.999686C>T
NG_009191.3:g.1827577C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642496.1:c.4055C>T
ENST00000644397.2:c.5196C>T MANE Select ENSP00000495195.1:p.Asn1732=
ENST00000373965.6:c.5007C>T ENSP00000363076.3:p.Asn1669=
ENST00000414778.5:c.5004C>T ENSP00000410304.2:p.Asn1668=
ENST00000495484.5:c.1224C>T ENSP00000480780.1:p.Asn408=
ENST00000614895.4:c.5019C>T ENSP00000478512.1:p.Asn1673=
ENST00000616114.4:c.5001C>T ENSP00000483745.1:p.Asn1667=
ENST00000618301.4:c.1356C>T ENSP00000482780.1:p.Asn452=
ENST00000621708.4:c.5022C>T ENSP00000484454.1:p.Asn1674=
NM_001142771.1:c.5022C>T NP_001136243.1:p.Asn1674=
NM_001142772.1:c.5007C>T NP_001136244.1:p.Asn1669=
NM_001354420.1:c.5001C>T NP_001341349.1:p.Asn1667=
NM_001354429.1:c.5130C>T NP_001341358.1:p.Asn1710=
XR_001747192.2:n.11488C>T
XR_001747193.2:n.11479C>T
NM_001142771.2:c.5022C>T NP_001136243.1:p.Asn1674=
NM_001142772.2:c.5007C>T NP_001136244.1:p.Asn1669=
NM_001354420.2:c.5001C>T NP_001341349.1:p.Asn1667=
NM_001354429.2:c.5130C>T NP_001341358.1:p.Asn1710=
NM_001384140.1:c.5196C>T MANE Select NP_001371069.1:p.Asn1732=